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Article

[Analysis of SMN1 gene mutations in 78 patients with spinal muscular atrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2017

Li Jing, Zhu Yuling, Zhan Yixin, Li Yaqin, Chen Menglong, Wang Liang, He Ruojie, Zhang Cheng

Abstract excerpt

OBJECTIVE: To explore the significance of SMN1 gene mutations among patients with spinal muscular atrophy (SMA) and the value of multiplex ligation dependent probe amplification (MLPA) for its diagnosis. METHODS: Potential mutations of the SMN1 gene were detected among 78 SMA patients with a MLPA assay. RESULTS: Homozygous deletion of SMN1 exons 7 and 8 was detected in 70 (89.7%) of all patients. Homozygous...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28981927
DOI: 10.3760/cma.j.issn.1003-9406.2017.05.008

Genes

SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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